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Targeted ultrasound examination and DNA testing for Noonan syndrome,in fetuses with increased nuchal translucency and normal karyotype |
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| Authors: | M Bakker E Pajkrt I B Mathijssen C M Bilardo |
| Institution: | 1. Department of Obstetrics and Gynaecology, Fetal Medicine Unit, University Medical Centre, Groningen, The Netherlands;2. Department of Obstetrics and Gynaecology, Fetal Medicine Unit, Academic Medical Centre, Amsterdam, The Netherlands;3. Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands |
| Abstract: | |
| Keywords: | Noonan syndrome increased nuchal translucency targeted DNA diagnostics RAS/MAPK pathway 3D ultrasound |